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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-1706405-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1706405&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MAPK8IP3",
"hgnc_id": 6884,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001318852.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2702,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "MAPK8IP3-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5686,
"cdna_start": 211,
"cds_end": null,
"cds_length": 4014,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001318852.2",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610761.2",
"protein_coding": true,
"protein_id": "NP_001305781.1",
"strand": true,
"transcript": "NM_001318852.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5686,
"cdna_start": 211,
"cds_end": null,
"cds_length": 4014,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000610761.2",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001318852.2",
"protein_coding": true,
"protein_id": "ENSP00000481780.1",
"strand": true,
"transcript": "ENST00000610761.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 223,
"cds_end": null,
"cds_length": 4011,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000250894.8",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000250894.4",
"strand": true,
"transcript": "ENST00000250894.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000561765.1",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "n.27C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000561765.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5685,
"cdna_start": 223,
"cds_end": null,
"cds_length": 4035,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000673691.1",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501096.1",
"strand": true,
"transcript": "ENST00000673691.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5649,
"cdna_start": 211,
"cds_end": null,
"cds_length": 4011,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015133.5",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055948.2",
"strand": true,
"transcript": "NM_015133.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5631,
"cdna_start": 211,
"cds_end": null,
"cds_length": 3993,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001040439.2",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035529.1",
"strand": true,
"transcript": "NM_001040439.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 213,
"cds_end": null,
"cds_length": 3993,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000356010.9",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348290.5",
"strand": true,
"transcript": "ENST00000356010.9",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 230,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 695,
"cdna_start": 66,
"cds_end": null,
"cds_length": 695,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000685565.1",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508465.1",
"strand": true,
"transcript": "ENST00000685565.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5710,
"cdna_start": 211,
"cds_end": null,
"cds_length": 4038,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011522429.3",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520731.1",
"strand": true,
"transcript": "XM_011522429.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 211,
"cds_end": null,
"cds_length": 4020,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011522430.3",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520732.1",
"strand": true,
"transcript": "XM_011522430.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 211,
"cds_end": null,
"cds_length": 4011,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047433812.1",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289768.1",
"strand": true,
"transcript": "XM_047433812.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 211,
"cds_end": null,
"cds_length": 3993,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047433813.1",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289769.1",
"strand": true,
"transcript": "XM_047433813.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": 211,
"cds_end": null,
"cds_length": 3969,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005255190.3",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Gly22Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255247.1",
"strand": true,
"transcript": "XM_005255190.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000564098.5",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "n.165C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000564098.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000685674.1",
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"hgvs_c": "n.240C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000685674.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs116548805",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0016746536,
"gene_hgnc_id": 6884,
"gene_symbol": "MAPK8IP3",
"gnomad_exomes_ac": 1428,
"gnomad_exomes_af": 0.000977294,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_ac": 1274,
"gnomad_genomes_af": 0.00836562,
"gnomad_genomes_homalt": 19,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 33,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|MAPK8IP3-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.532,
"pos": 1706405,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001318852.2"
}
]
}